Biology of Juvenile Myoclonic Epilepsy (BIOJUME)

The investigators are collecting genetic information through blood samples as well as clinical and EEG data from over 1000 people with Juvenile Myoclonic Epilepsy (JME) across the UK, Europe and North America. This study will draw on both existing and new samples from JME patients. These will be compared to anonymised data from samples for 2000 controls. The goal of this study is to find the genetic cause of JME. Finding the cause will help create better treatments for JME, as well as improve patient outcomes by allowing us to detect it earlier.

Study Overview

• Status: Recruiting
• Conditions: Juvenile Myoclonic Epilepsy
• Intervention / Treatment: Other: Blood draw; Other: Existing samples

Detailed Description

Epilepsy is a common neurological disorder affecting 1% of the population. There are over 30 types of epilepsy, some common, some rare. Most epilepsies arise in childhood and have a genetic cause. Approximately 40% of patients have the common forms of Genetic Generalised Epilepsy (GGE), and the commonest GGE is "Juvenile Myoclonic Epilepsy" or JME.

The goal of this study is to find the genetic cause for JME. The investigators will do this by comparing the genetic code in JME patients with that in people who do not have epilepsy. This study will use clues from their electroencephalograph or brainwave test that is used to help diagnose epilepsy. Participants will provide a single blood sample, along with permission to collect clinical data about their diagnosis and a copy of their clinical EEG. There is no direct benefit or risk to the research participants but the results from this study may help other people with epilepsy or brain impairments in the future.

There is overwhelming evidence that JME is caused by changes in genetic code. These changes are likely to be found in more than just one gene and there may be more than one type of change. In order to find these changes, this study will look at a large number of people with JME and compare their genetic code with people who do not have epilepsy. Finding the causes of JME will lead to better understanding of its cause, new treatments, and tailoring of treatments according to a person's genetic make-up.

• Study Type: Observational
• Enrollment (Estimated): 1000

Contacts and Locations

• Study Contact: Name: Deb K Pal, MD PhD; Phone Number: +442078480608; Email: deb.pal@kcl.ac.uk

Study Locations

• Canada
  • Ontario
    • Toronto, Ontario, Canada, M5G 0A4
      • Recruiting
      • Hospital for Sick Kids
      • Contact: Dr Lisa Strug
• Czechia
  • Praha, Czechia, 116 36
    • Recruiting
    • Charles University
    • Contact: Dr Jana Zarubova
• Denmark
  • Dianalund, Denmark, 4293
    • Recruiting
    • Danish National Epilepsy Centre
    • Contact: Dr Helle Hialgrim
    • Contact: Dr Rikke Moller
• Estonia
  • Tallin, Estonia, 13419
    • Recruiting
    • Tallinn Children's Hospital
    • Contact: Dr Inga Talvik
• France
  • Paris, France, 75019
    • Recruiting
    • University Robert Debré
    • Contact: Professor Stephane Auvin
• Italy
  • Roma, Italy, 00198
    • Recruiting
    • Commissione Genetica Lega Italiana contro l'Epilepssia
    • Contact: Dr Amedeo Bianchi
    • Contact: Dr Pasquale Striano
• Norway
  • Drammen, Norway, 3004
    • Recruiting
    • Vestre Viken Health Trust, Oslo
    • Contact: Dr Jeanette Koht
    • Contact: Dr Kaja Selmer
• United Kingdom
  • Liverpool, United Kingdom, L9 7LJ
    • Recruiting
    • Walton Centre For Neurology and Neurosurgery
    • Contact: Professor Anthony Marson
  • London, United Kingdom, E1 1BZ
    • Recruiting
    • Royal London Hospital
    • Contact: Maha Awadalla
  • London, United Kingdom, SE1 9HT
    • Recruiting
    • St Thomas' Hospital
    • Contact: Professor Michalis Koutroumanidis
  • London, United Kingdom, SE5 9RS
    • Recruiting
    • King's College Hospital NHS Trust
    • Contact: Professor Deb Pal; Email: deb.pal@kcl.ac.uk
    • Contact: Deb K Pal
  • Swansea, United Kingdom, sa2 8pp
    • Recruiting
    • Swansea University
    • Contact: Professor Mark Rees
    • Contact: Dr Rhys Thomas
• United States
  • New York
    • New York, New York, United States, 10003
      • Completed
      • Mount Sinai-Beth Israel Medical Center
    • New York, New York, United States, 10025
      • Completed
      • St Luke's Roosevelt Hospital
  • Ohio
    • Columbus, Ohio, United States, 43125
      • Completed
      • Nationwide Children's Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 10 years to 40 years (Child, Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

People in the UK, Europe, and North America with a diagnosis of Juvenile Myoclonic Epilepsy.

Description

Inclusion Criteria:

• Diagnosis of Juvenile Myoclonic Epilepsy in accordance with Consensus criteria

  • Age of myoclonus onset 10-25 years
  • Seizures comprising predominant or exclusive early morning myoclonus of upper extremities
  • EEG interictal generalized spikes and/or polyspike and waves with normal background
• Current age 10-40 years

Exclusion Criteria:

• Myoclonus only associated with carbamazepine or lamotrigine therapy
• EEG showing predominant focal interictal epileptiform discharges or abnormal background
• Any evidence of progressive or symptomatic myoclonus epilepsy or focal seizures
• Global learning disability
• Dysmorphic syndrome
• Unable to provide informed consent

Regrettably, we are currently unable to accept self-referrals to the BIOJUME study.

Study Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Other

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients diagnosed with JME; People who meet the eligibility requirements and have been diagnosed with juvenile myoclonic epilepsy.	Other: Blood draw; Participation includes one visit for one blood draw per recruited patient. 10-20ml peripheral venous blood will be taken from the antecubital fossa. The DNA from the blood sample will then be extracted and resequenced for analysis.
Controls; People without a lifetime history of seizures.	Other: Existing samples; Control DNA samples will be used that have been previously acquired in other studies.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Genomewide DNA association study	Association between SNP marker and phenotype is measured using genomewide DNA markers, which enables us to test support for molecular networks that act on seizure susceptibility	Day 1

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Quantitative EEG endophenotype	Brain network ictogenicity is measured using quantitative EEG data	Day 1

Collaborators and Investigators

• Sponsor: King's College London
• Collaborators: King's College Hospital NHS Trust; Charles University, Czech Republic; Hopital Universitaire Robert-Debre; Vestre Viken Hospital Trust; The Hospital for Sick Children; Cardiff University; Odense University Hospital
• Investigators: Principal Investigator: K Pal, MD PhD, King's College London

Publications and helpful links

Helpful Links

• Childhood Epilepsy website

Study record dates

Study Major Dates

• Study Start (Actual): July 13, 2017
• Primary Completion (Estimated): June 30, 2025
• Study Completion (Estimated): June 30, 2026

Study Registration Dates

• First Submitted: November 20, 2017
• First Submitted That Met QC Criteria: January 12, 2018
• First Posted (Actual): January 17, 2018

Study Record Updates

• Last Update Posted (Actual): May 25, 2023
• Last Update Submitted That Met QC Criteria: May 24, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Keywords: JME; Epilepsy; Juvenile Myoclonic Epilepsy; Genomewide Association Study; Genetics
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epilepsy, Generalized; Epileptic Syndromes; Epilepsy; Epilepsies, Myoclonic; Myoclonic Epilepsy, Juvenile
• Other Study ID Numbers: 199351; CIHR ID: MOP-142405 (Other Grant/Funding Number: Canadian Institutes of Health Research)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No